Clinical and epigenetic study of a case with adrenal hypoplasia congenita caused by a novel DAX-1 gene mutation / 中华内分泌代谢杂志

ABSTRACT

Hormones and epigenetic characteristics in a patient with clinically diagnosed adrenal hypoplasia congenita (AHC) were analyzed. Results indicated that plasma ACTH increased, while cortisol, testosterone, LH and FSH decreased. LH, FSH and testosterone did not sufficiently respond to GnRH or hCG stimulation. Gene analysis indicated that C368F mutation was located in exon 1 of DAX-1 gene.